93893963 newborn screening summary 2010

Newborn Screening in the

Philippines

Wilfredo R. Santos, MD

Neonatologist

CASE NO. 1

Baby Boy M was born via NSD to a 32 year

old G2P1 mother who had regular prenatal

check-up and had UTI at 8 months AOG. At

birth, he had good cry with an APGAR

score of 8,9. Patient was term with a BW =

3.2 kg. He was breastfed and was

apparently well until after a week

manifested vomiting, jaundice and seizure

CASE NO. 2

Baby Girl C was born via CS to a 34 year old

G1P0 mother who had placenta previa totalis.

Patient was born preterm at 32 weeks AOG and

had an AS of 6,7,8 BW= 1.9 kg . She was

ventilated with ET CPAP for a week , The course

of the NICU stay was uneventful and she was

discharged at 2 wks old. However, poor weight

gain and failure to thrive was noted at 1 year old

prompting the pediatrician to work up the patient.

Newborn Screening: History

Started in 1961 in Oregon and Massachussets

Robert Guthrie developed a simple bacterial inhibition assay for phenylalanine

Test required only a small amount of whole blood soaked into filter paper

Additional tests for other metabolic disorders ensued galactosemia, MSUD and homocystinuria

PKU screening was present throughout the US, Canada, Europe Australia and Japan by the end of the decade

Approximate Frequencies in the U.S. of

Disorders Included in Newborn Screening

Disorders Frequency

Congenital 1:4,000

Hypothyroidism

PKU 1:12,000

Galactosemia 1:60,000

CAH 1:19,000

Homocystinuria 1:200,000

MSUD 1:200,000

Reasons for Newborn Screening

Babies with metabolic disorders usually appear normal at birth

Manifestation of metabolic disorders are vague

The effects of metabolic disorders are progressive and irreversible

Developmental effects of metabolic disorders are seriously debilitating

Metabolic disorders are non-infectious; they can affect babies even of the most careful of

parents

Goals of Newborn Screening Program

Total participation of eligible population

Notification and education of all parents

Prompt and reliable laboratory testing

Rapid follow-up of positive tests

Accurate diagnosis of confirmed positive

cases

Appropriate treatment and counseling

Phil. Newborn Screening Project

Initiated in June 1996

Aim: to come up with statistical data to

support the implementation of a screening

program on a nationwide scale

HISTORY OF NEWBORN SCREENING IN THE PHILIPPINES 1996 PPS/POGS 24 accredited hospitals

Newborn Screening Group

Philippine Newborn Screening Project

1998 G6PD was added to the list of disorders. Homocystinuria was deleted

1999 the DOH included NBSP in the CHILD 2025 Program

2001 DOH created the National Technical Working Group for the nationwide implementation of NBSP

Who to screen? All newborns

When to screen? - Ideally at third day of life

- after at least 24 hours of full feeding

How is newborn screening done? - Heel prick

- Filter paper card

What disorders are being screened?

Congenital Hypothyroidism

Congenital Adrenal Hyperplasia

Phenylketonuria

Galactosemia

Glucose 6 Phosphate Dehydrogenase Deficiency

CONGENITAL

HYPOTHYROIDISM

A disorder affecting infants from birth, is due to the absence or deficiency of the thyroid hormone

Thyroid hormone is responsible for the normal function of certain body organs (bone, muscle, teeth, heart, bowels) and is essential for normal brain development.

Causes of Congenital Hypothyroidism

1). Defective development of the thyroid gland

2). Development of the thyroid gland in an abnormal location

3). Maternal intake of anti-thyroid medication or excess iodine

4). Inherent defect in thyroid hormone production

Diagnosis of Congenital Hypothyroidism

CLINICAL MANIFESTATIONS:

Most of the time, babies with CH appear

normal at birth. Clinical diagnosis occurs in

less than 5% of newborn because sign and

symptoms are often subtle and minimal and

non-specific

Laboratory Diagnosis of CH

Newborn Screening

High TSH and T4 levels are confirmatory of CH

Thyroid scan

Bone age

TREATMENT of CH:

Thyroid hormone replacement (L-thyroxine 10-15 mg/kg)


Results from deficient production of thyroid hormone or a defect in its receptor

Thyroid hormone is essential to the growth of the brain and body

Most infants with CH are asymptomatic at birth

Early diagnosis and treatment of hypothyroidism in the newborn prevents mental retardation


Newborn screening programs are designed to

detect elevated serum TSH levels in blood.

Before the advent of screening, less than 1/3

of affected infants were diagnosed before 3

months of age and only by 6 months of age;

irreversible brain damage developed in most

of these infants

Congenital Adrenal Hyperplasia

Caused by disorders of adrenal

steroid genesis leading to a deficiency of

cortisol

75% of affected infants have the salt-losing,

virilizing form

Treatment consists of steroid administration

CONGENITAL ADRENAL HYPERPLASIA

The lack of cortisol is due to deficiency of certain

enzymes necessary for its production and this will

result to over production or under production of

other hormones like aldosterone and androgen

Aldosterone is the hormone responsible for

maintaining and controlling the amount of salt

such as sodium and potassium in the body

Androgen is the male hormone

Types of CAH

1). 21-hydroxylase (90%)

2). 11-hydroxylase (5%)

3). 3-beta hydroxydehydrogenase and

isomerase

4). 20,22 desmolase

5). 17-hydroxylase

Salt-losers ( 80%) Non salt-losers (20%)

Diagnosis of CAH

In girls:

- Abnormal sex organ

- Early appearance of pubic

& axillary hairs

- Excessive hairs

- Deep voice

- Failure to menstruate

- Abnormal menstrual

period

In boys:

- Enlarged penis

- Early increase in height

- Early appearance of pubic

& axillary hairs

- Early development of

masculine characteristics

- Small testes upon reaching

adolescence

PHENYLKETONURIA

Inherited enzyme deficiency prevents the baby

from utilizing proteins properly

Phenylalanine excess disrupts normal

metabolism and causes brain damage

If not diagnosed and treated early, mental

retardation almost always occur

Treatment only involves a special diet

Normal development is possible with early

treatment

What is Phenylketonuria?

Phenylketonuria or PKU is a condition

characterized by high serum levels of

phenylalanine and phenylketones in the

urine due to absence of the enzyme

phenylalanine hydroxylase.

PKU is an autosomal recessive disorder

due to defective gene locus on the q22-

q24.1 band region of chromosome 12

Diagnosis of PKU

CLINICAL MANIFESTATIONS:

- impaired brain development

- musty body odor, eczema

- lighter skin and hair color (decreased

tyrosine levels)

- exaggerated DTRs, paraplegia,

hemiplegia

Treatment of PKU

Diet consisting of low

phenylalanine and controlled

amounts of tyrosine and other

amino acids

Special milk formula

Galactosemia

Babies with this disorder cannot metabolize

galactose

Accumulation of galactose in the body can

cause multiple problems brain damage,

cataracts, liver cirrhosis

Babies are treated by putting them on a

special galactose free diet

What is Galactosemia? It is an autosomal recessive disorder

characterized by the bodys inability to use

galactose as a source of energy.

3 Enzyme deficiencies:

1). Galactokinase, which converts galactose to

galactose-1-phosphate

2). Uridine diphosphate (UDP) galactose-4-

epimerase

3). Galactose-1-phosphate uridyltransferase (GALT)

- responsible for hereditary or classical

galactosemia

Signs & Symptoms of Galactosemia

- Hypoglycemia

- Irritability

- Vomiting

- Jaundice

- Diarrhea

- Liver enlargement

- Sepsis (E. Coli)

COMPLICATIONS:

- Cataract

- Learning disabilities

- Neurologic disorders

- Speech disorder

WHAT IS G6PD?

What is G6PD ?

G6PD is a cytoplasmic enzyme

important in the production of NADPH in

cells which is required in various

biosynthetic pathways .

G6PD plays a key role in protecting

RBCs from oxidative stress, without it they

will be prone to hemolysis leading to

anemia and jaundice

What Triggers the Symptoms of

G6PD Deficiency?

1. Ingestion of fava beans oand other type of

foods (tokwa, taho and soya-containing

food)

2. Infection hepatitis, pneumonia, typhoid

fever)

3. Intake of drugs - Primaquine

Diagnosis of G6PD Deficiency

In babies: early appearance and persistence of jaundice

In older children and adults: symptoms of pallor, dizziness, headache, jaundice, tea-colored urine

Confirmatory Test: Assay Test for quantitative determination of G6PD using patients erythrocytes. A positive assay is a value of

Flow Chart

OB explains Newborn Screening to mothers

Consents obtained by OB

NBS explained by the pediatrician if consent not yet secured

Newborn Screening done If discharged < 48 hours

on the 3rd day of Newborn Screening done at

1st check up

Filter card samples sent to NIH via FedEx

Samples are sorted

Rejected samples Accepted samples NIH requests for repeat Laboratory runs in the samples sample collection Positive screen Negative screen NIH informs Hospital Results released to Coordinator coordinators AMD is informed Results are relayed to Pediatricians Patients recalled for confirmation tests

Newborn Screening: Cost - Effective

Prevents mental retardation and even death

Saves on hospitalization costs incurred from

complications of metabolic disorders

Saves on costs for special education and

therapy if early treatment is missed

Saves children from a life of complete

dependence

Saves families from the frustrating and

heartbreaking task of caring for an affected

child

Causes of Unsatisfactory Samples

1. Blood clots on surface

2. Incomplete saturation

3. Filter paper damaged

4. Blood layered on surface

5. Blood applied on both sides

6. Contamination

7. QNS to complete testing

When to Collect Samples

Full term Infants

Collect sample before discharge from

hospital of birth. If initial sample was

collected before 24 hours of age obtain

repeat sample in about 14 days.

Home/out of hospital births

The birth attendant (physician, midwife, or

certified nurse) is responsible for

collecting a sample before one week of life

for out of hospital births.


Extended Hospital stays (Premature/Sick infants)

Collect sample by the seventh day of life unless a

transfusion is imminent. Hospital stays longer

than 14 days require a repeat screening at time

of discharge or at one month of age if hospital

stay is longer than one month


Transfused Infants

Collect initial sample before transfusion, if

possible.

If sample is collected before transfusion and

less than 24 hours of age, repeat testing at

30 and 60 days of life.

If initial sample was collected post-

transfusion, testing should be done at 6,30

and 60 days of life.


Transferred Infants

If transfer to another hospital is imminent,

collect sample before transfer, if at all

possible. Be sure to inform the transferring

hospital of collection status, including

whether or not the sample was collected,

age at time of collection, transfusion status,

etc.


Parent Refusal of Newborn Screening Testing

Parents may refuse newborn screening testing

of their baby ONLY on the grounds that it

conflicts with their religious tenets and

practices. Parents refusing under this

condition should sign a statement that is

placed in the infants medical record.

Cost of Newborn Screening

Two Screening Packages:

1). Screening for 5 Disorders : P550.00

CH, CAH, GAL, PKU, G6PD

2). Screening for 2 Disorders only : P310.00

CH and CAH

THANK

YOU !

93893963 newborn screening summary 2010

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